Varaico: Literature-Extracted Genetic Variants

MTHFR

5,247 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation ...

Pfam Domains

MTHFRaa 88–377UCSCMethylenetetrahydrofolate reductase

MTHFR_Caa 384–684UCSCMTHFR, SAM-binding regulatory domain

Gene Aliases

HGNC Name

methylenetetrahydrofolate reductase

HGNC Previous Names

5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase (NAD(P)H)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005957.5

p.R44*

c.130A>T

Surrounding Variants

1 paper

NM_005957.5

p.E43D

c.129G>T

1 paper

NM_005957.5

p.E43D

c.129G>C

1 paper

NM_005957.5

p.E43G

c.128A>G

2 papers

NM_005957.5

p.E43A

c.128A>C

2 papers

NM_005957.5

p.E43K

c.127G>A

1 paper

NM_005957.5

p.L45I

c.133C>A

29 papers

NM_005957.5

p.R46W

c.136C>T

1 paper

NM_005957.5

p.R46L

c.137G>T

1 paper

NM_005957.5

p.R41R

c.123G>T

1 paper

NM_005957.5

p.R46P

c.137G>C

10 papers

NM_005957.5

p.R46Q

c.137G>A

2 papers

NM_005957.5

p.R41Q

c.122G>A